Canonical Allele Identifier: CA2729123727

Gene: COL4A1

Linked Data

• dbSNP Id: rs2139154265

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169526_110169527insCGCA , CM000675.2:g.110169526_110169527insCGCA	GRCh38
NC_000013.10:g.110821873_110821874insCGCA , CM000675.1:g.110821873_110821874insCGCA	GRCh37
NC_000013.9:g.109619874_109619875insCGCA	NCBI36
NG_011544.2:g.142625_142626insCGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3876+104_3876+105insCGTG MANE Select	ENSP00000364979.4:n.3876+104_3876+105insCGTG
ENST00000650424.1:c.32+104_32+105insCGTG
ENST00000375820.8:c.3876+104_3876+105insCGTG	ENSP00000364979.4:n.3876+104_3876+105insCGTG
NM_001845.5:c.3876+104_3876+105insCGTG	NP_001836.3:n.3876+104_3876+105insCGTG
XM_011521048.1:c.3684+104_3684+105insCGTG	XP_011519350.1:n.3684+104_3684+105insCGTG
XM_011521048.2:c.3684+104_3684+105insCGTG	XP_011519350.1:n.3684+104_3684+105insCGTG
NM_001845.6:c.3876+104_3876+105insCGTG MANE Select	NP_001836.3:n.3876+104_3876+105insCGTG